| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129996517, POLR1C (R22H) | Single nucleotide variant (missense variant) | Treacher Collins syndrome 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Treacher Collins syndrome 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 3 +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 3 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene